Variant (rsID / SNP)

rs869312848

rs869312848 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CSNK2A1. Location: chromosome 20, position 472,995. Clinical significance in the table: Pathogenic.

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Reference-table entries

CSNK2A1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 20:472995
Cytoband: 20p13
HGVS: NM_177559.3(CSNK2A1):c.524A>G (p.Asp175Gly)
Allele change: Missense_D175G

Associated conditions / phenotypes

Okur-Chung neurodevelopmental syndrome

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.